Serologically defined colon cancer antigen 8
The gene SDCCAG8 encodes a centrosome associated protein, whose function is associated with interphase regulation during mitosis. Mutations cause various recessive ciliopathies such as Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, and Nephronophthisis 10.
Genetests:
Related Diseases:
References:
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Chaki M et al. (2012) Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
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2. |
Otto EA et al. (2010) Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.
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3. |
Billingsley G et al. (2012) Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly.
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4. |
Scanlan MJ et al. (1998) Characterization of human colon cancer antigens recognized by autologous antibodies.
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5. |
Kenedy AA et al. (2003) Identification and characterization of the novel centrosome-associated protein CCCAP.
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6. |
OMIM.ORG article
Omim 613524
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7. |
Orphanet article
Orphanet ID 244364
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8. |
NCBI article
NCBI 10806
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9. |
Wikipedia article
Wikipedia EN (SDCCAG8)
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Update: Aug. 14, 2020